DisGeNET - a database of gene-disease associations

EFEMP2, EGF containing fibulin extracellular matrix protein 2, 30008

N. diseases: 126; N. variants: 14

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs10896064

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C0206710
Disease:

Basal Cell Neoplasm

0.700

GeneticVariation

GWASCAT

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

31174203

2019

dbSNP:

rs10896064

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C0751676
Disease:

Basal Cell Cancer

0.700

GeneticVariation

GWASCAT

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

31174203

2019

dbSNP:

rs10896064

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C0007117
Disease:

Basal cell carcinoma

0.700

GeneticVariation

GWASCAT

Combined analysis of keratinocyte cancers identifies novel genome-wide loci.

31174203

2019

dbSNP:

rs2234458

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C1305855
Disease:

Body mass index

0.700

GeneticVariation

GWASCAT

Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

30595370

2019

dbSNP:

rs1555042727

Entrez Id:	30008;80198
Gene Symbol:	EFEMP2;MUS81

EFEMP2;MUS81

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

GeneticVariation

CLINVAR

Functional consequence of fibulin-4 missense mutations associated with vascular and skeletal abnormalities and cutis laxa.

27339457

2016

dbSNP:

rs888015688

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

GeneticVariation

CLINVAR

Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa.

17937443

2007

dbSNP:

rs1555042727

Entrez Id:	30008;80198
Gene Symbol:	EFEMP2;MUS81

EFEMP2;MUS81

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

GeneticVariation

CLINVAR

Comparison of intravenous and topical lidocaine as a suppressant of coughing after bronchoscopy during general anesthesia.

2038931

1991

dbSNP:

rs119489101

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs119489102

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs193302864

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs193302865

Entrez Id:	30008;80198
Gene Symbol:	EFEMP2;MUS81

EFEMP2;MUS81

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

AGCGG

0.700

CausalMutation

CLINVAR

dbSNP:

rs193302866

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs193302867

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs193302868

Entrez Id:	30008;80198
Gene Symbol:	EFEMP2;MUS81

EFEMP2;MUS81

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs193302869

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs193302870

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs397514683

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C3280798
Disease:

CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IB

0.700

CausalMutation

CLINVAR

dbSNP:

rs119489101

Entrez Id:	30008
Gene Symbol:	EFEMP2

EFEMP2

CUI:	C2931134
Disease:

Cutis laxa, recessive

0.010

GeneticVariation

BEFREE

Fibulin-4 E57K Knock-in Mice Recapitulate Cutaneous, Vascular and Skeletal Defects of Recessive Cutis Laxa 1B with both Elastic Fiber and Collagen Fibril Abnormalities.

26178373

2015